Canonical Allele Identifier: CA2293652161
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31082962A= , CM000680.2:g.31082962A= GRCh38
NC_000018.9:g.28662928A= , CM000680.1:g.28662928A= GRCh37
NC_000018.8:g.26916926A= NCBI36
NG_008208.2:g.24464T= , LRG_400:g.24464T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.612T= ENSP00000507826.1:p.Asp204=
ENST00000251081.8:c.1041T= ENSP00000251081.6:p.Asp347=
ENST00000280904.11:c.1041T= MANE Select ENSP00000280904.6:p.Asp347=
ENST00000648081.1:c.612T= ENSP00000497441.1:p.Asp204=
ENST00000251081.6:c.1041T= ENSP00000251081.6:p.Asp347=
ENST00000280904.10:c.1041T= ENSP00000280904.6:p.Asp347=
NM_004949.4:c.1041T= NP_004940.1:p.Asp347=
NM_024422.4:c.1041T= NP_077740.1:p.Asp347=
XM_005258206.3:c.612T= XP_005258263.1:p.Asp204=
XM_005258206.4:c.612T= XP_005258263.1:p.Asp204=
NM_004949.5:c.1041T= NP_004940.1:p.Asp347=
NM_024422.6:c.1041T= MANE Select NP_077740.1:p.Asp347=